Author

Claudia Ciaccio

Fondazione IRCCS Istituto Neurologico Carlo BestaORCID 0000-0002-4100-7028Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Bioinformatics· 1 Genetic & Genomic Medicine· 1

Signature Assays, Organisms & Methods

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Approach:experimental assay· 1 Organism:human· 1 Organism:mouse· 1 Approach:statistical model· 1 Research Focus:variant calling· 1 Assay:whole-exome sequencing· 1 Organism:zebrafish· 1

Frequent Co-Authors

Alain VerloèsiD· 1 shared Alexej KnausiD· 1 shared Alfredo OrricoiD· 1 shared Allan BayatiD· 1 shared Ange‐Line BrueliD· 1 shared Angela Maria KaindliD· 1 shared Anna Keryan· 1 shared Anna Sarah Schossig· 1 shared

Activity by Year

2019-2023 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 29 mutual co-author links

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1 shared paperBioinformatics

Alain VerloèsORCID

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Author profile →

2 papers

Recent·Most cited

Monoallelic de novo variants in DDX17 cause a novel neurodevelopmental disorder

Eleanor G. Seaby, Annie Godwin, Valentine Clerc, Géraldine Meyer-Dilhet, Xavier Grand, Tia Fletcher, Laloé Monteiro, Valério Carelli, Flavia Palombo, Marco Seri, Giulia Olivucci, Mina Grippa, Claudia Ciaccio, Stefano D’Arrigo, Maria Rosaria Iascone, , Sarah Ennis

The paper identifies de novo monoallelic DDX17 variants in 11 patients with neurodevelopmental disorders and shows DDX17 dysfunction causes neuronal migration and axon outgrowth defects in multiple models.

medRxiv · Oct 11, 2023 · PreprintGenetic & Genomic Medicine

PEDIA: Prioritization of Exome Data by Image Analysis

Tzung‐Chien Hsieh, Martin A. Mensah, Jean Tori Pantel, Dione Aguilar, Omri Bar, Allan Bayat, Luis Eduardo Becerra-Solano, Heidi Beate Bentzen, Saskia Biskup, Oleg Borisov, Øivind Braaten, Claudia Ciaccio, Marie Coutelier, Kirsten Cremer, Magdalena Danyel, , Peter Michael Krawitz

The paper introduces an AI-driven method that uses facial images to prioritize exome data, achieving 99% top-10 accuracy in identifying disease-causing genes.

Genetics in Medicine · Jun 4, 2019Peer-reviewedBioinformatics